نتایج جستجو برای: autosomal recessive primary microcephaly
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Primary Autosomal Recessive Microcephaly (MCPH) is characterized by congenital microcephaly usually without additional clinical findings. The most common gene implicated in MCPH is ASPM and a large percentage of mutations described have been homozygous and in consanguineous families primarily of East Asian and Middle Eastern origin. ASPM sequencing was performed on 400 patients between the year...
Annals of Human GeneticsVolume 87, Issue 1-2 COVER IMAGEFree Access Cover Image, Volume 1–2 First published: 01 March 2023 https://doi.org/10.1111/ahg.12504AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text full-text accessPlease review our Terms and Conditions Use check box below share version article.I have read accept the Wiley...
Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we ident...
Microcephalin (MCPH1) is a BRCA1 COOH terminal (BRCT) domain containing protein involved in the cellular response to DNA damage that has been implicated in autosomal recessive primary microcephaly. MCPH1 is recruited to sites of DNA double-strand breaks by phosphorylated histone H2AX (gammaH2AX), but the mechanism by which MCPH1 contributes to the repair process remains to be determined. Here, ...
Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate cell division have been reported to cause autosomal recessive primary microcephaly (MCPH). By homozygosity mapping including three affected individuals from a consanguineous MCPH family from Pakistan, we delineated a critical region of 1...
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations Hao Hu, Vanessa Suckow, Luciana Musante, Viola Roggenkamp, Nadine Kraemer, HansHilger Ropers, Christoph Hübner, Thomas F Wienker & Angela M Kaindl a Max Planck Institute for Molecular Genetics; Berlin, Germany b Department of Pediatric Neurology; Charité University Med...
Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we ident...
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